Facial Tic, Weight Loss, Delusion

"This is all a big mistake." The man sat leaning forward in the flimsy plastic chair. His eyes were bright, and his arms were wrapped around his torso, hands gripped tightly to his thin shoulders. "Do you know who I am?" he asked. "Well, do you? I need to call my lawyer." His face contorted into a grim version of a smile, then he began to pace the small room. He was lanky, with broad shoulders, but his clothes were dirty and hung from his bony frame as if he'd lost a lot of weight since they were new. Jessica McCoy, a third-year medical student, glanced nervously at the doctor who had come with her to interview the patient. He nodded his encouragement, and she turned back to the patient. "Tell me what brought you to the hospital," she asked once more. He'd complained of back pain in the emergency room, according to his slender chart. He had enemies, he explained to those doctors -- enemies who had broken into his home and injected him with poison. That was what was causing his back pain.

"I told the other doctors, and now they won't let me leave," the patient said. "This is an outrage. I am the richest man in the world. I need to call my lawyer." As he spoke, he gestured wildly, and his face distorted at times into a strange, involuntary smile -- at odds with the intensity of his refusal. But McCoy was patient, and slowly the story emerged. The back pain was bothering him today, but he thought maybe he'd had it for a while. He hadn't been able to sleep for several days and hadn't been able to eat for even longer, and he didn't know why. He was 38, he didn't care much for doctors and he had never seen a psychiatrist; he had never been in a psychiatric ward -- until now. He was a famous singer, he told them. He'd cut albums, gone platinum, toured the globe. Why hadn't they heard of him? He didn't smoke, he rarely drank and he had never used drugs. He had no family. He spoke rapidly -- his words crowding one another, making them unintelligible at times. Occasionally he turned his answers into rhymes, rapping bits of his story.

2. Investigation

It was clear to both McCoy and the doctor, Matthew Hurford, a second-year psychiatry resident, that they would not be able to make a diagnosis based on this history alone. They needed to examine the patient; they needed blood for tests. The man was clearly manic. His energy was frantic; he couldn't eat or sleep. Words poured out of his mouth like water from a high-pressure hose. But what was causing it? Drugs -- crack or methamphetamines -- were probably the most common cause of such mania, but the patient denied any drug use. Abnormalities in his body's chemistry -- too much thyroid hormone, too little sodium -- can also change the way the brain works. Or was this really a psychiatric disease? Could it be the first manifestation of bipolar disease -- the manic phase of manic-depression? He was a little old for that. Bipolar disease and schizophrenia typically appear in late adolescence or early adulthood and often run in families. Or was it a disease of the brain? Organic brain disease can mimic mental illness but often reveals itself in characteristic findings on physical examination. Despite McCoy's encouragement, the patient was adamant: they could not examine him; they could not take any blood. "I know my rights," he said. "No blood, no blood." There was nothing wrong with him, he insisted. Then he sat back down in the chair, wrapped his arms tightly around his chest and refused to speak again.

The student and the doctor left the locked ward and tried to put the story together. Drugs seemed unlikely; the E.R. had been able to send some urine to be screened for the most common drugs -- all tests were negative. Though he denied any family history of mental illness, it wasn't clear how much of this history could be trusted. What they needed was more information. In the E.R., the patient had given the name of a woman as an emergency contact. McCoy returned to the patient and asked if she could call the woman. "Sure," he said. "She'll tell you who I am. And then you'll have to let me out."

McCoy called the woman. "Thank God he's all right," the woman said, clearly relieved. The patient had been missing for days, and one of his sisters had filed a missing-person report with the police. The woman had known the patient for two years and noticed that he had become increasingly withdrawn and quiet -- and strange. He'd stare for hours at the television with the sound muted. He seemed paranoid and suspicious. "I still love him, but he's like a different person now," she told McCoy. The woman confirmed parts of the patient's story: he'd never been to a psychiatrist; he didn't smoke, drink or use drugs. He loved to play music. He worked as a cook in a nursing home but recently lost that job because of this strange behavior. Both of his parents were dead. He still had family, however: an 18-year-old son, now in college, a brother and two sisters. "His mother died young of some rare genetic disease," the woman said. "I don't know what it was." She paused. "You know, I've been wondering if he's got it, too." McCoy hurried to find Hurford and tell him this news.

There are a number of rare, hereditary diseases that progress slowly and can manifest as psychiatric illnesses. Wilson's disease, caused by an overload of dietary copper, can produce tics and irritability. Acute intermittent porphyria can also cause psychosis, but severe abdominal pain almost always heralds its onset. The doctor, however, immediately focused on Huntington's disease. This neurological disease, which can cause mental-illness symptoms (usually depression), is accompanied by a movement disorder known as chorea, derived from the Greek word for "dance." The grimaces and dramatic gestures seen in this patient were so typical of the disease that it used to be called Huntington's chorea. Each child of an affected parent has a 50 percent chance of getting the disease.

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So once again, Jessica McCoy headed back to the patient's room, accompanied by Dr. Hurford. When they asked the patient about his mother's illness and death, his answer was quick and definitive. Yes, she had Huntington's, but he was certain that he did not. He hadn't been tested, didn't want to be tested, didn't need to be tested, because he didn't have it. That evening, McCoy called the patient's older sister. She confirmed that their mother died of Huntington's. The oldest brother had it as well and was now in a nursing home. It saddened her to hear that her younger brother probably had it, though she had begun to suspect as much when she heard of his odd behavior. "Now I guess I have to worry about his son too."

It took several days -- and the help of both sisters, the patient's son and an assortment of nieces and nephews -- to persuade the man to let the doctors take the blood needed to confirm the diagnosis. They had already gotten him to agree to take antipsychotic drugs, and soon the paranoia and delusions began to subside. By the end of the week, he was discharged to the care of his family. The test came back positive a few weeks later.

I recently called the patient's older sister -- the matriarch of the family -- to find out how he was doing 18 months after the diagnosis. The medicines had quickly made him almost normal, she reported, but even then he couldn't believe he had Huntington's. He stopped taking them soon after, as if he preferred his delusions to the reality of living with Huntington's disease. These days he stays in a local shelter. Family members see him occasionally, but he always refuses to come home. Maybe running away from the family is his way of running from the disease itself. "I understand that," she told me. "And what can I tell him? Will our love change what's going to happen to him? He knows it won't. All we can do is care, and we'll do that no matter where he is."

THE WAY WE LIVE NOW: 5-29-05: DIAGNOSIS If you have a solved case to share with Dr. Sanders, you can e-mail her at LSanders@pol.net. She is unable to respond to all e-mail messages.